Lipodystrophy-intellectual disability-deafness syndrome

Summary

Lipodystrophy-intellectual disability-deafness syndrome (MONDO:0011976) is a disease. A subtype of hereditary lipodystrophy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 13

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		3	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

13 HPO clinical features (Orphanet curated; top 13 by frequency):

HPO ID	Term	Frequency
HP:0000407	Sensorineural hearing impairment	Very frequent (80-99%)
HP:0000938	Osteopenia	Very frequent (80-99%)
HP:0001249	Intellectual disability	Very frequent (80-99%)
HP:0001263	Global developmental delay	Very frequent (80-99%)
HP:0001508	Failure to thrive	Very frequent (80-99%)
HP:0001511	Intrauterine growth retardation	Very frequent (80-99%)
HP:0001518	Small for gestational age	Very frequent (80-99%)
HP:0001533	Slender build	Very frequent (80-99%)
HP:0004322	Short stature	Very frequent (80-99%)
HP:0004993	Slender long bones with narrow diaphyses	Very frequent (80-99%)
HP:0005328	Progeroid facial appearance	Very frequent (80-99%)
HP:0009064	Generalized lipodystrophy	Very frequent (80-99%)
HP:0100959	Dense metaphyseal bands	Very frequent (80-99%)

Identifiers

Disease identifiers

Field	Value
Canonical name	lipodystrophy-intellectual disability-deafness syndrome
Mondo ID	MONDO:0011976
MeSH	C564283
OMIM	608154
Orphanet	50811
SNOMED CT	721973006
UMLS	C1842465
MedGen	334166
GARD	0016646
Is cancer (heuristic)	no

Also known as: lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones · Rajab-Spranger syndrome

Disease family

This is a subtype of hereditary lipodystrophy. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by developmental or physiological process › metabolic disease › lipodystrophy › hereditary lipodystrophy › lipodystrophy-intellectual disability-deafness syndrome

Related subtypes (10): congenital generalized lipodystrophy, lipodystrophy due to peptidic growth factors deficiency, Wiedemann-Rautenstrauch syndrome, SHORT syndrome, Keppen-Lubinsky syndrome, severe neurodegenerative syndrome with lipodystrophy, lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy, mandibuloacral dysplasia, Berardinelli-Seip congenital lipodystrophy, familial partial lipodystrophy

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.